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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-7982766-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=7982766&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PARK7",
"hgnc_id": 16369,
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_007262.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "Y_RNA",
"hgnc_id": null,
"hgvs_c": "n.*115C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000363474.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007262.5",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338639.10",
"protein_coding": true,
"protein_id": "NP_009193.2",
"strand": true,
"transcript": "NM_007262.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000338639.10",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007262.5",
"protein_coding": true,
"protein_id": "ENSP00000340278.5",
"strand": true,
"transcript": "ENST00000338639.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000493678.5",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418770.1",
"strand": true,
"transcript": "ENST00000493678.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 201,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": null,
"cds_end": null,
"cds_length": 606,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923305.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.446-2128G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593364.1",
"strand": true,
"transcript": "ENST00000923305.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001123377.2",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116849.1",
"strand": true,
"transcript": "NM_001123377.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 783,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377488.5",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366708.1",
"strand": true,
"transcript": "ENST00000377488.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377491.5",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366711.1",
"strand": true,
"transcript": "ENST00000377491.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872623.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542682.1",
"strand": true,
"transcript": "ENST00000872623.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 870,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872625.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542684.1",
"strand": true,
"transcript": "ENST00000872625.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 189,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 886,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000872628.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542687.1",
"strand": true,
"transcript": "ENST00000872628.1",
"transcript_support_level": null
},
{
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"aa_length": 189,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
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"feature": "ENST00000872631.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542690.1",
"strand": true,
"transcript": "ENST00000872631.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000923297.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593356.1",
"strand": true,
"transcript": "ENST00000923297.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000923298.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593357.1",
"strand": true,
"transcript": "ENST00000923298.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000923299.1",
"gene_hgnc_id": 16369,
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"hgvs_c": "c.410-2128G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593358.1",
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"transcript": "ENST00000923299.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000493373.5",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.410-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000465404.1",
"strand": true,
"transcript": "ENST00000493373.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 564,
"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000923300.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.404-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593359.1",
"strand": true,
"transcript": "ENST00000923300.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
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"feature": "ENST00000923302.1",
"gene_hgnc_id": 16369,
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"hgvs_c": "c.404-2128G>A",
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"protein_coding": true,
"protein_id": "ENSP00000593361.1",
"strand": true,
"transcript": "ENST00000923302.1",
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},
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],
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"feature": "ENST00000923306.1",
"gene_hgnc_id": 16369,
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"hgvs_c": "c.404-2128G>A",
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"protein_coding": true,
"protein_id": "ENSP00000593365.1",
"strand": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000923303.1",
"gene_hgnc_id": 16369,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593362.1",
"strand": true,
"transcript": "ENST00000923303.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 870,
"cdna_start": null,
"cds_end": null,
"cds_length": 546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923310.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.386-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593369.1",
"strand": true,
"transcript": "ENST00000923310.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 540,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923304.1",
"gene_hgnc_id": 16369,
"gene_symbol": "PARK7",
"hgvs_c": "c.380-2128G>A",
"hgvs_p": null,
"intron_rank": 6,
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